FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2143742162> ?p ?o ?g. }

• W2143742162 abstract "Abstract Background MicroRNAs (miRNAs) are a family of short, non-coding RNAs modulating expression of human protein coding genes (miRNA target genes). Their dysfunction is associated with many human diseases, including neurodevelopmental disorders. It has been recently shown that genomic copy number variations (CNVs) can cause aberrant expression of integral miRNAs and their target genes, and contribute to intellectual disability (ID). Results To better understand the CNV-miRNA relationship in ID, we investigated the prevalence and function of miRNAs and miRNA target genes in five groups of CNVs. Three groups of CNVs were from 213 probands with ID (24 de novo CNVs, 46 familial and 216 common CNVs), one group of CNVs was from a cohort of 32 cognitively normal subjects (67 CNVs) and one group of CNVs represented 40 ID related syndromic regions listed in DECIPHER (30 CNVs) which served as positive controls for CNVs causing or predisposing to ID. Our results show that 1). The number of miRNAs is significantly higher in de novo or DECIPHER CNVs than in familial or common CNV subgroups (P < 0.01). 2). miRNAs with brain related functions are more prevalent in de novo CNV groups compared to common CNV groups. 3). More miRNA target genes are found in de novo , familial and DECIPHER CNVs than in the common CNV subgroup (P < 0.05). 4). The MAPK signaling cascade is found to be enriched among the miRNA target genes from de novo and DECIPHER CNV subgroups. Conclusions Our findings reveal an increase in miRNA and miRNA target gene content in de novo versus common CNVs in subjects with ID. Their expression profile and participation in pathways support a possible role of miRNA copy number change in cognition and/or CNV-mediated developmental delay. Systematic analysis of expression/function of miRNAs in addition to coding genes integral to CNVs could uncover new causes of ID." @default.
• W2143742162 created "2016-06-24" @default.
• W2143742162 creator A5009284923 @default.
• W2143742162 creator A5012991069 @default.
• W2143742162 creator A5014597565 @default.
• W2143742162 creator A5019249853 @default.
• W2143742162 creator A5026213219 @default.
• W2143742162 creator A5042523204 @default.
• W2143742162 date "2013-08-10" @default.
• W2143742162 modified "2023-10-09" @default.
• W2143742162 title "miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability" @default.
• W2143742162 cites W1502268080 @default.
• W2143742162 cites W1871970522 @default.
• W2143742162 cites W1965381538 @default.
• W2143742162 cites W1967770761 @default.
• W2143742162 cites W1968300632 @default.
• W2143742162 cites W1971196789 @default.
• W2143742162 cites W1980548655 @default.
• W2143742162 cites W1982232165 @default.
• W2143742162 cites W1985540714 @default.
• W2143742162 cites W1986820918 @default.
• W2143742162 cites W1987499598 @default.
• W2143742162 cites W1991818527 @default.
• W2143742162 cites W1998770186 @default.
• W2143742162 cites W2004429089 @default.
• W2143742162 cites W2004552109 @default.
• W2143742162 cites W2010658411 @default.
• W2143742162 cites W2010746841 @default.
• W2143742162 cites W2013104725 @default.
• W2143742162 cites W2017426710 @default.
• W2143742162 cites W2035395829 @default.
• W2143742162 cites W2036841261 @default.
• W2143742162 cites W2041509376 @default.
• W2143742162 cites W2057126702 @default.
• W2143742162 cites W2060860407 @default.
• W2143742162 cites W2060913442 @default.
• W2143742162 cites W2063065808 @default.
• W2143742162 cites W2069696742 @default.
• W2143742162 cites W2070777085 @default.
• W2143742162 cites W2072207023 @default.
• W2143742162 cites W2073491406 @default.
• W2143742162 cites W2082503303 @default.
• W2143742162 cites W2083381199 @default.
• W2143742162 cites W2094833927 @default.
• W2143742162 cites W2104926998 @default.
• W2143742162 cites W2121412124 @default.
• W2143742162 cites W2128674168 @default.
• W2143742162 cites W2133175245 @default.
• W2143742162 cites W2136482257 @default.
• W2143742162 cites W2137932411 @default.
• W2143742162 cites W2138664009 @default.
• W2143742162 cites W2149779494 @default.
• W2143742162 cites W2152155904 @default.
• W2143742162 cites W2156670174 @default.
• W2143742162 cites W2159793493 @default.
• W2143742162 cites W2160467221 @default.
• W2143742162 cites W2160765806 @default.
• W2143742162 doi "https://doi.org/10.1186/1471-2164-14-544" @default.
• W2143742162 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3750877" @default.
• W2143742162 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23937676" @default.
• W2143742162 hasPublicationYear "2013" @default.
• W2143742162 type Work @default.
• W2143742162 sameAs 2143742162 @default.
• W2143742162 citedByCount "18" @default.
• W2143742162 countsByYear W21437421622014 @default.
• W2143742162 countsByYear W21437421622015 @default.
• W2143742162 countsByYear W21437421622017 @default.
• W2143742162 countsByYear W21437421622018 @default.
• W2143742162 countsByYear W21437421622019 @default.
• W2143742162 countsByYear W21437421622021 @default.
• W2143742162 countsByYear W21437421622022 @default.
• W2143742162 countsByYear W21437421622023 @default.
• W2143742162 crossrefType "journal-article" @default.
• W2143742162 hasAuthorship W2143742162A5009284923 @default.
• W2143742162 hasAuthorship W2143742162A5012991069 @default.
• W2143742162 hasAuthorship W2143742162A5014597565 @default.
• W2143742162 hasAuthorship W2143742162A5019249853 @default.
• W2143742162 hasAuthorship W2143742162A5026213219 @default.
• W2143742162 hasAuthorship W2143742162A5042523204 @default.
• W2143742162 hasBestOaLocation W21437421621 @default.
• W2143742162 hasConcept C104317684 @default.
• W2143742162 hasConcept C120821319 @default.
• W2143742162 hasConcept C141231307 @default.
• W2143742162 hasConcept C145059251 @default.
• W2143742162 hasConcept C164614171 @default.
• W2143742162 hasConcept C188997412 @default.
• W2143742162 hasConcept C47042493 @default.
• W2143742162 hasConcept C501734568 @default.
• W2143742162 hasConcept C54355233 @default.
• W2143742162 hasConcept C551499885 @default.
• W2143742162 hasConcept C86803240 @default.
• W2143742162 hasConceptScore W2143742162C104317684 @default.
• W2143742162 hasConceptScore W2143742162C120821319 @default.
• W2143742162 hasConceptScore W2143742162C141231307 @default.
• W2143742162 hasConceptScore W2143742162C145059251 @default.
• W2143742162 hasConceptScore W2143742162C164614171 @default.
• W2143742162 hasConceptScore W2143742162C188997412 @default.
• W2143742162 hasConceptScore W2143742162C47042493 @default.
• W2143742162 hasConceptScore W2143742162C501734568 @default.
• W2143742162 hasConceptScore W2143742162C54355233 @default.

• next